Liver transplantation for a patient with Turner syndrome presenting severe portal hypertension: a case report and literature review.
Liver transplantation for a patient with Turner syndrome presenting severe portal hypertension: a case report and literature review.
复制标题
DOI：
10.1186/s40792-016-0194-x
复制
发表时间：
2016-12
影响因子：
0.8
通讯作者：
Inomata Y
中科院分区：
文献类型：
--
作者：
Kawabata S;Sakamoto S;Honda M;Hayashida S;Yamamoto H;Mikami Y;Inomata Y
近年来，Turner综合征（TS）患者的肝脏受累已得到更清楚的阐明。TS的大多数临床表现是无症状的，可以被检测为肝功能检查异常;然而，少数病例可能出现终末期肝病，因此需要肝移植（LT）。据我们所知，只有三个案件进行LT的肝脏参与TS先前已报告。一名30岁女性成功接受活体供肝移植治疗TS综合征相关肝功能障碍。TS的诊断是在16岁时通过细胞遗传学分析确定的。她接受了多次内镜治疗复发性食管静脉曲张，这是并发腹水和自发性细菌性腹膜炎，因为27岁。肝移植前的影像学检查结果按时间顺序显示肝萎缩的进展伴主要门静脉流入障碍。然后，她最终被指征为LT。肝硬化的病理结果显示血管异常，闭塞性门静脉病变，这可能导致肝功能障碍伴严重门静脉高压症。患者的术后病程顺利。本病例所获得的临床病理资料，可以提供一个深入了解TS患者肝脏受累的病理生理机制。出现严重肝萎缩和主要门静脉流入障碍的TS患者应适用LT。
Liver involvement in Turner syndrome (TS) patients has been more clearly clarified in recent years. Most of the clinical manifestations in TS are asymptomatic and can be detected as liver test abnormalities; however, a few cases may present with end-stage liver disease and thus require liver transplantation (LT). To the best of our knowledge, only three cases undergoing LT for liver involvements in TS have been previously reported. A 30-year-old female successfully underwent living donor LT for liver dysfunction related to TS syndrome. The diagnosis of TS was established by a cytogenetic analysis at 16 years of age. She received several sessions of endoscopic therapy for recurrent esophageal varices, which was complicated by ascites and spontaneous bacterial peritonitis since 27 years of age. Radiological findings of her liver before LT chronologically showed the progression of atrophy with disturbance of the major portal inflow. And then, she was finally indicated for LT. Pathologic findings of the explanted liver showed vascular abnormalities, obliterative portal venopathy, which may have induced liver dysfunction with severe portal hypertension. The patient’s postoperative course was uneventful. The clinicopathologic information obtained by the current case can provide an insight into understanding pathophysiological mechanisms of liver involvement in TS patients. TS patients presenting with severe liver atrophy and disturbance of the major portal inflow should be indicated for LT.